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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 5-35114509-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=35114509&ref=G&alt=A&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "5",
"pos": 35114509,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000618457.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRLR",
"gene_hgnc_id": 9446,
"hgvs_c": "c.-44+3552C>T",
"hgvs_p": null,
"transcript": "NM_000949.7",
"protein_id": "NP_000940.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11581,
"mane_select": "ENST00000618457.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRLR",
"gene_hgnc_id": 9446,
"hgvs_c": "c.-44+3552C>T",
"hgvs_p": null,
"transcript": "ENST00000618457.5",
"protein_id": "ENSP00000482954.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11581,
"mane_select": "NM_000949.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRLR",
"gene_hgnc_id": 9446,
"hgvs_c": "c.-44+3552C>T",
"hgvs_p": null,
"transcript": "ENST00000509839.5",
"protein_id": "ENSP00000427060.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": -4,
"cds_end": null,
"cds_length": 334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRLR",
"gene_hgnc_id": 9446,
"hgvs_c": "c.-44+3552C>T",
"hgvs_p": null,
"transcript": "NM_001204314.2",
"protein_id": "NP_001191243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": -4,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRLR",
"gene_hgnc_id": 9446,
"hgvs_c": "c.-44+3552C>T",
"hgvs_p": null,
"transcript": "ENST00000620785.4",
"protein_id": "ENSP00000482689.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": -4,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRLR",
"gene_hgnc_id": 9446,
"hgvs_c": "c.-44+3552C>T",
"hgvs_p": null,
"transcript": "NM_001204316.1",
"protein_id": "NP_001191245.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": -4,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRLR",
"gene_hgnc_id": 9446,
"hgvs_c": "c.-44+3552C>T",
"hgvs_p": null,
"transcript": "ENST00000542609.5",
"protein_id": "ENSP00000441813.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": -4,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRLR",
"gene_hgnc_id": 9446,
"hgvs_c": "c.-44+3552C>T",
"hgvs_p": null,
"transcript": "NM_001204315.1",
"protein_id": "NP_001191244.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": -4,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRLR",
"gene_hgnc_id": 9446,
"hgvs_c": "c.-44+3552C>T",
"hgvs_p": null,
"transcript": "ENST00000619676.4",
"protein_id": "ENSP00000484768.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": -4,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRLR",
"gene_hgnc_id": 9446,
"hgvs_c": "c.-44+3552C>T",
"hgvs_p": null,
"transcript": "NM_001204317.1",
"protein_id": "NP_001191246.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRLR",
"gene_hgnc_id": 9446,
"hgvs_c": "c.-44+3552C>T",
"hgvs_p": null,
"transcript": "ENST00000509140.5",
"protein_id": "ENSP00000425300.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
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"gene_symbol": "PRLR",
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"hgvs_c": "c.-44+3552C>T",
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"transcript": "NM_001204318.1",
"protein_id": "NP_001191247.1",
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "PRLR",
"gene_hgnc_id": 9446,
"hgvs_c": "c.-44+3552C>T",
"hgvs_p": null,
"transcript": "ENST00000514088.5",
"protein_id": "ENSP00000422935.2",
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},
{
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],
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"gene_symbol": "PRLR",
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"hgvs_c": "c.-44+3552C>T",
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"transcript": "ENST00000514206.5",
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},
{
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],
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"gene_symbol": "PRLR",
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"hgvs_c": "c.-44+3552C>T",
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"transcript": "ENST00000503330.5",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "PRLR",
"gene_hgnc_id": 9446,
"hgvs_c": "c.-44+3552C>T",
"hgvs_p": null,
"transcript": "ENST00000504500.5",
"protein_id": "ENSP00000422867.1",
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},
{
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"gene_symbol": "PRLR",
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"transcript": "ENST00000515839.1",
"protein_id": "ENSP00000421864.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRLR",
"gene_hgnc_id": 9446,
"hgvs_c": "n.-44+3552C>T",
"hgvs_p": null,
"transcript": "ENST00000508107.5",
"protein_id": "ENSP00000427236.1",
"transcript_support_level": 3,
"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000301126",
"gene_hgnc_id": null,
"hgvs_c": "n.148-18637G>A",
"hgvs_p": null,
"transcript": "ENST00000776430.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "PRLR",
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"hgvs_c": "n.62+3552C>T",
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},
{
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],
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"gene_symbol": "PRLR",
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"hgvs_c": "c.60-24846C>T",
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"transcript": "XM_024446131.2",
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{
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],
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"intron_rank": 3,
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"gene_symbol": "PRLR",
"gene_hgnc_id": 9446,
"hgvs_c": "c.-44+3552C>T",
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"transcript": "XM_006714484.3",
"protein_id": "XP_006714547.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PRLR",
"gene_hgnc_id": 9446,
"hgvs_c": "c.-44+3552C>T",
"hgvs_p": null,
"transcript": "XM_011514068.3",
"protein_id": "XP_011512370.1",
"transcript_support_level": null,
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},
{
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},
{
"aa_ref": null,
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}
],
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"gnomad_genomes_af": 0.390193,
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"gnomad_genomes_ac": 59339,
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"gnomad_genomes_homalt": 14281,
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"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.862,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"benign_score": 12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000618457.5",
"gene_symbol": "PRLR",
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"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown,AD",
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},
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000776430.1",
"gene_symbol": "ENSG00000301126",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.148-18637G>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}